Fever-induced recurrent rhabdomyolysis due to a novel mutation in the ryanodine receptor type 1 gene-Reference-Cited by-同舟云学术

Fever-induced recurrent rhabdomyolysis due to a novel mutation in the ryanodine receptor type 1 gene

Published:2014-08 Issue:8 Volume:44 Page:819-820
ISSN:1444-0903
Container-title:Internal Medicine Journal
language:en
Short-container-title:Intern Med J

Author:

Molenaar J. P.¹^ORCID,Voermans N. C.¹,van Hoeve B. J.¹,Kamsteeg E. J.²,Kluijtmans L. A.³,Kusters B.⁴⁵,Jungbluth H. J.⁶⁷⁸,van Engelen B. G.¹

Affiliation:

1. Department of Neurology; Radboud University Medical Centre; Nijmegen the Netherlands

2. Department of Genetics; Radboud University Medical Centre; Nijmegen the Netherlands

3. Department of Laboratory Medicine, Laboratory of Genetic, Endocrine and Metabolic Diseases; Radboud University Medical Centre; Nijmegen The Netherlands

4. Department of Pathology; Radboud University Medical Centre; Nijmegen The Netherlands

5. Department of Pathology; Maastricht University Medical Centre; Maastricht The Netherlands

6. Department of Paediatric Neurology, Neuromuscular Service; Evelina Children's Hospital, St Thomas' Hospital; London UK

7. Randall Division for Cell and Molecular Biophysics, Muscle Signalling Section; King's College; London UK

8. Clinical Neuroscience Division, IOP; King's College; London UK

Publisher

Wiley

Subject

Internal Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/imj.12498/fullpdf

Reference7 articles.

1. Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis;Dlamini;Neuromuscul Disord,2013

2. Rhabdomyolysis: an evaluation of 475 hospitalized patients;Melli;Medicine,2005

3. Myopathic causes of exercise intolerance with rhabdomyolysis;Quinlivan;Dev Med Child Neurol,2012

4. Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm;Treves;Curr Opin Pharmacol,2008

5. Identical de novo mutation in the type 1 ryanodine receptor gene associated with fatal, stress-induced malignant hyperthermia in two unrelated families;Groom;Anesthesiology,2011

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